{
    "disease_id": "DOID:0061271",
    "recommended_name": {
        "id": "DOID:0061271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061271",
        "name": "liver glycogen storage disease",
        "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GYS2 gene which encodes glycogen synthase-2, on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disorder due to hepatic glycogen synthase deficiency",
            "description": "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves."
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD due to hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to glycogen synthase deficiency of liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease due to liver glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogenosis type 0a",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "liver glycogen storage disease due to glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "GSD0A",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease 0, liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "glycogen storage disease type 0, liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "hepatic glycogen synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "hypoglycemia with deficiency of glycogen synthetase in the liver",
            "description": ""
        },
        {
            "id": "MONDO:0009414",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009414",
            "name": "liver GSD 0",
            "description": ""
        },
        {
            "id": "MIM:240600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/240600",
            "name": "Glycogen storage disease 0",
            "description": "Glycogen storage disease 0"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061271"
    ],
    "unlinked_id_list": []
}